Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002942536 | SCV003271785 | uncertain significance | Congenital myasthenic syndrome 15 | 2022-02-08 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with ALG14-related conditions. This variant is present in population databases (rs751242894, gnomAD 0.002%). This sequence change affects codon 8 of the ALG14 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALG14 protein. |